Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?

Citation
Md. Boente et al., Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?, EUR J DERM, 10(2), 2000, pp. 98-102
Citations number
39
Categorie Soggetti
da verificare
Journal title
EUROPEAN JOURNAL OF DERMATOLOGY
ISSN journal
11671122 → ACNP
Volume
10
Issue
2
Year of publication
2000
Pages
98 - 102
Database
ISI
SICI code
1167-1122(200003)10:2<98:AIFHCC>2.0.ZU;2-F
Abstract
A boy with congenital atrichia, ichthyosis follicular, keratitis. cutaneous infections and a huge inguinal hernia, but without deafness is reported. W e believe it represents a new case of ii rare X-linked recessive syndrome k nown as ichthyosis follicularis. alopecia, photophobia syndrome (IFAP), The differential diagnosis from keratitis ichthyosis deafness is discussed. Th e cutaneous infections seen in our case suggest the possibility of consider ing a genetic link between these syndromes.